For decades, scientists have searched for a mechanistic link between viral infection and multiple sclerosis (MS). Insights from three studies recently published in Cell bring that connection into sharper focus. By tracing how the immune system responds to Epstein-Barr virus (EBV) – and how those responses can misfire against the brain – researchers are beginning to uncover a compelling biological explanation for MS.
Dentatorubral-pallidoluysian atrophy (DRPLA) is a lethal neurodegenerative disorder caused by pathogenic expansion of CAG repeats within the atrophin-1 (ATN1) gene. As DRPLA belongs to the broader class of repeat expansion disorders (RED) that are driven by toxic gain-of-function effects, reduction or elimination of ATN1 expression is predicted to provide therapeutic benefit.
Researchers at Iama Therapeutics Srl and Italian Institute of Technology have disclosed solute carrier family 12 member 2 (SLC12A2; NKCC1) inhibitors reported to be useful for the treatment of Down syndrome.
Neurotrimin (NTM) is a member of the IgLON family, the disruption of which has been tied to emotional learning deficits and anxiety-like behavior in animal models. A mutation in the NTM gene was found to disrupt NTM protein heterodimerization with other IgLON family members, suggesting a potential link between NTM dysfunction and neurodevelopmental and behavioral disorders.
Keiferx LLC has entered into a research collaboration and option agreement with Amneal Pharmaceuticals Inc. to support the pre-IND development of KFRX-06, Keiferx’s brain-penetrant preclinical candidate designed to inhibit leucine-rich repeat kinase 2 (LRRK2), a gene strongly implicated in Parkinson’s disease biology.
While Alzheimer’s disease is known for involving amyloid-b plaques and neurofibrillary tangles, it also involves metabolic dysfunction, further research into which could help scientists understand how the disease occurs and how it can be treated.
Entrada Therapeutics Inc. has updated progress across its preclinical portfolio of RNA-based programs for the potential treatment of neuromuscular and ocular diseases.
Dewpoint Therapeutics Inc. has announced the selection of a development candidate for its TDP-43 program. The first-in-class small molecule is designed to correct disease-associated TDP-43 condensates, restoring normal TDP-43 function and addressing the core molecular pathology that drives neurodegeneration in amyotrophic lateral sclerosis (ALS) and related diseases.
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